Article
Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative.
Stem cell research - 1 Oct 2023
Balducci Valentina, Scardigli Francesco, Harakalova Magdalena, Peter van Tintelen J, Doevendans Pieter A, Costa Kevin D, Turnbull Irene C, P G Sluijter Joost, Stillitano Francesca
Abstract excerpt
The rare genetic alteration PLN-c.(40_42delAGA), leading to the deletion of arginine 14 (p.R14del) in phospholamban, is associated with dilated and arrhythmogenic cardiomyopathies occurring in early-adulthood. However, some carriers remain asymptomatic with normal lifespans. Here, we report human induced pluripotent stem cell (iPSC) lines generated from peripheral blood mononuclear cells (PBMCs) of five...
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